rs1799889 is an insertion/deletion polymorphism in the promoter region of the SERPINE1 gene, which is also known as plasminogen activator inhibitor type 1 (or PAI1 or PAI-1). [There are several entries in dbSNP covering this same position; the one here in SNPedia is the one with population frequency.] The most common allele has a run of 5 G's in the area around this SNP, and in the literature the allele is commonly called the 5G allele. A deletion of one nucleotide leads to the "4G" allele, i.e. rs1799889(-).
The 4G allele has been reported to increase risk for atherosclerosis and coronary artery disease [PMID 9484978]; on the other hand, the 5G allele may increase the risk of abdominal aortic aneurysm (AAA). [PMID 10805895]
In combination with the A2 allele of the ITGB3 gene, rs5918, the increased risk of myocardial infarction in a Finnish study population was 4 fold higher (odds ratio = 4.5, p=0.001), particularly in males (odds ratio = 6.4, p=0.0005) [PMID 9700201].
[PMID 20737565] Association of PAI-1 gene polymorphism with survival and chemotherapy-related vascular toxicity in testicular cancer
[PMID 21752301] Significant associations of PAI-1 genetic polymorphisms with osteonecrosis of the femoral head
[PMID 21761413] Genetic polymorphism of the plasminogen activator inhibitor-1 is associated with an increased risk of endometrial cancer[PMID 16424345] Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and association with coronary heart disease.
[PMID 17761618] 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19368854] No association between the promoter polymorphisms of PAI-1 gene and sporadic Alzheimer's disease in Chinese Han population.
[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
[PMID 19526059] Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.
[PMID 21385363] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.
[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.
[PMID 22503724] Promoter polymorphisms of SERPINE1 are associated with the antidepressant response to depression in Alzheimer's disease.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23570848] tPA Alu (I/D) polymorphism associates with bacterial osteomyelitis